CYP24A1 Gene Summary [Human]

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This mitochondrial protein initiates the degradation of 1,25-dihydroxyvitamin D3, the physiologically active form of vitamin D3, by hydroxylation of the side chain. In regulating the level of vitamin D3, this enzyme plays a role in calcium homeostasis and the vitamin D endocrine system. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
CYP24A1
Official Name
cytochrome P450 family 24 subfamily A member 1 [Source:HGNC Symbol;Acc:HGNC:2602]
Ensembl ID
ENSG00000019186
Bio databases IDs NCBI: 1591 Ensembl: ENSG00000019186
Aliases cytochrome P450 family 24 subfamily A member 1
Synonyms 1,25-dihydroxyvitamin d3 24-hydroxylase, 24-Hydroxylase, 24-OHase, 24R-Ohase, Calcidiol 24-Hydroxylase, CP24, CYP24, cytochrome P450 family 24 subfamily A member 1, cytochrome P450, family 24, subfamily a, polypeptide 1, HCAI, HCINF1, P450c24, P450-CC24, Vitamin d-24-hydroxylase, VITD12
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CYP24A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • cytochrome P450 (CYP) superfamily
  • Cytochrome P450
  • vitamin D3 25-hydroxylase
  • 25-hydroxycholecalciferol-24-hydroxylase
  • enzyme
  • steroid hydroxylase
  • heme binding
  • 1-alpha,25-dihydroxyvitamin D3 (1,25-(OH)2D3) 24-hydroxylase

Pathways

Biological processes and signaling networks where the CYP24A1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
  • neoplasia
  • multiple sclerosis
  • infantile hypercalcemia type 1
  • prostate cancer
  • lung adenocarcinoma
  • lung adenocarcinoma formation
  • esophageal squamous cell carcinoma
  • esophageal squamous cell cancer
  • insulin-dependent diabetes mellitus
  • atopic dermatitis
regulated by
  • tetradecanoylphorbol acetate
  • CTNNB1
  • beta-estradiol
  • D-glucose
  • calcifediol
  • IL1B
  • calcitriol
  • RXRA
  • VDR
  • YY1
regulates
  • CCNB1
  • CDKN1A
  • 1,25-dihydroxyvitamin D
  • vitamin D
  • calcifediol
  • 24-oxo-23,25 dihydroxyvitamin D3
  • CDC20
  • reporter gene
  • 20-hydroxyvitamin D3
  • calcifediol lactone
role in cell
  • proliferation
  • production in
  • apoptosis
  • accumulation in
  • migration
  • synthesis in
  • binding in
  • senescence
  • mitosis
  • invasion by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Mitochondria
  • cytosol
  • mitochondrial inner membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CYP24A1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • response to vitamin D
  • vitamin D receptor signaling pathway
  • osteoblast differentiation
  • vitamin metabolic process
  • vitamin D catabolic process
  • vitamin D metabolic process

Cellular Component

Where in the cell the gene product is active
  • mitochondrial inner membrane

Molecular Function

What the gene product does at the molecular level
  • iron ion binding
  • vitamin D 25-hydroxylase activity
  • 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity
  • 25-hydroxycholecalciferol-24-hydroxylase activity
  • heme binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.